Pyruvate carboxylase deficiency - Insights from liver transplantation

William L. Nyhan, Ajai Khanna, Bruce A. Barshop, Robert K. Naviaux, Andrew F. Precht, Joel E. Lavine, Marquis A. Hart, Bryan E. Hainline, Rebecca S. Wappner, Sharon Nichols, Richard H. Haas

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

Pyruvate carboxylase deficiency, complex form, presents in early infancy with lethal metabolic acidosis, resulting from ketoacidosis and lactic acidemia. Renal tubular acidosis, hyperammonemia, and citrullinemia complete the picture. In an infant with this disease, large amounts of glucose ameliorated the ketoacidosis, but worsened the lactic acidosis. Orthotopic hepatic transplantation completely reversed the ketoacidosis and the renal tubular abnormality and ameliorated the lactic acidemia. Concentrations of glutamine in cerebrospinal fluid were low and did not improve with liver transplantation.

Original languageEnglish (US)
Pages (from-to)143-149
Number of pages7
JournalMolecular Genetics and Metabolism
Volume77
Issue number1-2
DOIs
StatePublished - Oct 29 2002

Keywords

  • Ketoacidosis
  • Lactic acidemia
  • Liver transplantation
  • Pyruvate carboxylase

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

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    Nyhan, W. L., Khanna, A., Barshop, B. A., Naviaux, R. K., Precht, A. F., Lavine, J. E., Hart, M. A., Hainline, B. E., Wappner, R. S., Nichols, S., & Haas, R. H. (2002). Pyruvate carboxylase deficiency - Insights from liver transplantation. Molecular Genetics and Metabolism, 77(1-2), 143-149. https://doi.org/10.1016/S1096-7192(02)00123-3